Rothmund–Thomson syndrome
Rare autosomal recessive skin condition. / From Wikipedia, the free encyclopedia
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Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive[3][4] skin condition.
Quick Facts Other names, Specialty ...
Rothmund–Thomson syndrome | |
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Other names | Poikiloderma atrophicans with cataract or Poikiloderma congenitale[1][2] |
Panel showing some clinical features of the RTS syndrome. A) Chronic phase of cheek poikiloderma (4-year-old girl). B) Poikiloderma with alopecia (21-year-old boy). C) Poikiloderma. D) Poikiloderma sparing the trunk (courtesy of Professor M. Paradisi, Rome). E) Photo distributed poikiloderma and valgism of the knees. F) Thumb aplasia (patient B). G) Bone defect seen by X-Rays: cystic-like destructive lesion of the humerus (distal epiphysis) without apparent solution of continuity of the cortical bone (patient E). | |
Specialty | Medical genetics |
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There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase RECQL4 gene, causing problems during initiation of DNA replication has been implicated in the syndrome.[1][5][6][7]